| 罕见疾病研究现状及展望 |
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| 引用本文： | 韩金祥,崔亚洲,周小艳. 罕见疾病研究现状及展望[J]. 罕少疾病杂志, 2011, 18(1): 1-6. DOI: 10.3969/j.issn.1009-3257.2011.01.001 |
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| 作者姓名： | 韩金祥 崔亚洲 周小艳 |
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| 作者单位： | 山东省医药生物技术研究中心,卫生部生物技术药物重点实验室,山东省罕少见病重点实验室,山东省医学科学院,济南,250062 |
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| 摘 要： | 通过对罕见病病谱及分布的调查,美国、日本等发达国家根据本国的情况给出了不同的界定标准,并已通过立法促进罕见病防治.近几年来,随着分子生物学技术的快速发展,遗传性罕见疾病的研究也进入快车道,其研究成果不仅在罕见疾病的临床诊断、药物开发、治疗中发挥了重要作用,而且还是研究复杂疾病或正常生命活动分子机制的捷径,我国对罕见疾病...
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| 关 键 词： | 罕见疾病 |
Current Status and Prospect of the Research on Rare Diseases |
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| HAN Jin-xiang,CUI Ya-zhou,ZHOU Xiao-yan. Current Status and Prospect of the Research on Rare Diseases[J]. Journal of Rare and Uncommon Diseases, 2011, 18(1): 1-6. DOI: 10.3969/j.issn.1009-3257.2011.01.001 |
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| Authors: | HAN Jin-xiang CUI Ya-zhou ZHOU Xiao-yan |
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| Affiliation: | HAN Jin-xiang,CUI Ya-zhou,ZHOU Xiao-yan.Shandong Medical Biotechnological Center,Key Laboratory for Biotech-Drug of Health Ministry,Key Laboratory for rare diseases of Shandong Province,Shandong Academy of Medical Sciences,Jinan 250062,China |
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| Abstract: | In some developed countries,according to investigation on their own national spectrum and distribution of rare diseases,rare diseases had been defined differently and legislation had been established to improve rare diseases prevention and treatment.In recent years,great progress in gene sequencing has contributed to worldwide research of genetic rare diseases.The research results not only played an important role in diagnosis,drug development and treatment of rare diseases,but also provided shortcut in mol... |
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